Variant report

Variant	rs4650032
Chromosome Location	chr1:70674017-70674018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70673955-70674107	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:70673993-70674303	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:70673563-70674074	K562	blood:	n/a	n/a
4	POLR2A	chr1:70673963-70674154	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
2	chr1:70671247..70672785-chr1:70672964..70674754,3	K562	blood:

Variant related genes	Relation type
LRRC40	TF binding region
ENSG00000066557	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000228988	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs36018834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70672400-70674200	Enhancers	Brain Anterior Caudate	brain
4	chr1:70672400-70674400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:70672400-70676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:70672400-70677400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:70672400-70681200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:70672600-70674400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:70672600-70674400	Enhancers	Colon Smooth Muscle	Colon
11	chr1:70672600-70675000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:70672600-70675400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr1:70672600-70686400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:70672600-70686600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:70672800-70674200	Enhancers	Ovary	ovary
16	chr1:70672800-70674400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:70672800-70674400	Genic enhancers	Primary T cells from cord blood	blood
18	chr1:70672800-70674400	Enhancers	Pancreas	Pancrea
19	chr1:70672800-70674400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:70672800-70686600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:70673000-70674200	Enhancers	Right Ventricle	heart
22	chr1:70673000-70674400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:70673000-70674400	Enhancers	Fetal Brain Female	brain
24	chr1:70673000-70674400	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:70673000-70674600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:70673000-70677600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:70673000-70677800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:70673000-70680800	Weak transcription	Esophagus	oesophagus
29	chr1:70673000-70680800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:70673000-70681800	Weak transcription	Fetal Kidney	kidney
31	chr1:70673000-70683400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:70673200-70674200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:70673200-70674200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:70673200-70674200	Genic enhancers	HUVEC	blood vessel
35	chr1:70673200-70674400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:70673200-70674400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:70673200-70674400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:70673200-70674400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:70673200-70674400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:70673200-70674400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:70673200-70674400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:70673200-70674400	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr1:70673200-70674400	Enhancers	HepG2	liver
44	chr1:70673200-70674800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:70673200-70675000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr1:70673200-70678800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:70673200-70680800	Weak transcription	Fetal Intestine Large	intestine
48	chr1:70673200-70686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:70673200-70686200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:70673200-70686400	Weak transcription	Brain Substantia Nigra	brain

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